BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 37968704)

  • 1. The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
    Quaio CRDC; Ceroni JRM; Pereira MA; Teixeira ACB; Yamada RY; Cintra VP; Perrone E; De França M; Chen K; Minillo RM; Biondo CA; de Mello MRB; Moura LR; do Nascimento ATB; de Oliveira Pelegrino K; de Lima LB; do Amaral Virmond L; Moreno CA; Prota JRM; de Araujo Espolaor JG; Silva TYT; Moraes GHI; de Oliveira GS; Moura LMS; Caraciolo MP; Guedes RLM; Gretschischkin MC; Chazanas PLN; Nakamura CNI; de Souza Reis R; Toledo CM; Lage FSD; de Almeida GB; do Nascimento Júnior JB; Cardoso MA; de Paula Azevedo V; de Almeida TF; Cervato MC; de Oliveira Filho JB
    Hum Genomics; 2023 Nov; 17(1):102. PubMed ID: 37968704
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
    Goldstein JL; McGlaughon J; Kanavy D; Goomber S; Pan Y; Deml B; Donti T; Kearns L; Seifert BA; Schachter M; Son RG; Thaxton C; Udani R; Bali D; Baudet H; Caggana M; Hung C; Kyriakopoulou L; Rosenblum L; Steiner R; Pinto E Vairo F; Wang Y; Watson M; Fernandez R; Weaver M; Clarke L; Rehder C
    Mol Genet Metab; 2023; 140(1-2):107715. PubMed ID: 37907381
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
    Burdon KP; Graham P; Hadler J; Hulleman JD; Pasutto F; Boese EA; Craig JE; Fingert JH; Hewitt AW; Siggs OM; Whisenhunt K; Young TL; Mackey DA; Dubowsky A; Souzeau E
    Hum Mutat; 2022 Dec; 43(12):2170-2186. PubMed ID: 36217948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluating ClinGen variant curation expert panels' application of PVS1 code.
    Wang X; Li H; Luo H; Zou Y; Li H; Qin Y; Song J
    Eur J Med Genet; 2024 Feb; 67():104909. PubMed ID: 38199457
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
    Kountouris P; Stephanou C; Lederer CW; Traeger-Synodinos J; Bento C; Harteveld CL; Fylaktou E; Koopmann TT; Halim-Fikri H; Michailidou K; Nfonsam LE; Waye JS; Zilfalil BA; Kleanthous M;
    Hum Mutat; 2022 Aug; 43(8):1089-1096. PubMed ID: 34510646
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
    Rivera-Muñoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W; Eng C; Funke B; Hegde M; Hershberger RE; Mao R; Steiner RD; Vincent LM; Martin CL; Plon SE; Ramos E; Rehm HL; Watson M; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1614-1622. PubMed ID: 30311389
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
    Ross JE; Zhang BM; Lee K; Mohan S; Branchford BR; Bray P; Dugan SN; Freson K; Heller PG; Kahr WHA; Lambert MP; Luchtman-Jones L; Luo M; Perez Botero J; Rondina MT; Ryan G; Westbury S; Bergmeier W; Di Paola J
    Blood Adv; 2021 Jan; 5(2):414-431. PubMed ID: 33496739
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
    Preston CG; Wright MW; Madhavrao R; Harrison SM; Goldstein JL; Luo X; Wand H; Wulf B; Cheung G; Mandell ME; Tong H; Cheng S; Iacocca MA; Pineda AL; Popejoy AB; Dalton K; Zhen J; Dwight SS; Babb L; DiStefano M; O'Daniel JM; Lee K; Riggs ER; Zastrow DB; Mester JL; Ritter DI; Patel RY; Subramanian SL; Milosavljevic A; Berg JS; Rehm HL; Plon SE; Cherry JM; Bustamante CD; Costa HA;
    Genome Med; 2022 Jan; 14(1):6. PubMed ID: 35039090
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
    Luo X; Feurstein S; Mohan S; Porter CC; Jackson SA; Keel S; Chicka M; Brown AL; Kesserwan C; Agarwal A; Luo M; Li Z; Ross JE; Baliakas P; Pineda-Alvarez D; DiNardo CD; Bertuch AA; Mehta N; Vulliamy T; Wang Y; Nichols KE; Malcovati L; Walsh MF; Rawlings LH; McWeeney SK; Soulier J; Raimbault A; Routbort MJ; Zhang L; Ryan G; Speck NA; Plon SE; Wu D; Godley LA
    Blood Adv; 2019 Oct; 3(20):2962-2979. PubMed ID: 31648317
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical Interpretation of Sequence Variants.
    Zhang J; Yao Y; He H; Shen J
    Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
    Riggs ER; Andersen EF; Cherry AM; Kantarci S; Kearney H; Patel A; Raca G; Ritter DI; South ST; Thorland EC; Pineda-Alvarez D; Aradhya S; Martin CL
    Genet Med; 2020 Feb; 22(2):245-257. PubMed ID: 31690835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
    Oza AM; DiStefano MT; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Murry JB; Hasadsri L; Nara K; Kenna M; Booth KT; Azaiez H; Griffith A; Avraham KB; Kremer H; Rehm HL; Amr SS; Abou Tayoun AN;
    Hum Mutat; 2018 Nov; 39(11):1593-1613. PubMed ID: 30311386
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
    Kanavy DM; McNulty SM; Jairath MK; Brnich SE; Bizon C; Powell BC; Berg JS
    Genome Med; 2019 Nov; 11(1):77. PubMed ID: 31783775
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
    Patel RY; Shah N; Jackson AR; Ghosh R; Pawliczek P; Paithankar S; Baker A; Riehle K; Chen H; Milosavljevic S; Bizon C; Rynearson S; Nelson T; Jarvik GP; Rehm HL; Harrison SM; Azzariti D; Powell B; Babb L; Plon SE; Milosavljevic A;
    Genome Med; 2017 Jan; 9(1):3. PubMed ID: 28081714
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"].
    Chen D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):915-921. PubMed ID: 37532488
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
    Morales A; Kinnamon DD; Jordan E; Platt J; Vatta M; Dorschner MO; Starkey CA; Mead JO; Ai T; Burke W; Gastier-Foster J; Jarvik GP; Rehm HL; Nickerson DA; Hershberger RE; ;
    Circ Genom Precis Med; 2020 Apr; 13(2):e002480. PubMed ID: 32160020
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
    Gelb BD; Cavé H; Dillon MW; Gripp KW; Lee JA; Mason-Suares H; Rauen KA; Williams B; Zenker M; Vincent LM;
    Genet Med; 2018 Nov; 20(11):1334-1345. PubMed ID: 29493581
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
    Chora JR; Iacocca MA; Tichý L; Wand H; Kurtz CL; Zimmermann H; Leon A; Williams M; Humphries SE; Hooper AJ; Trinder M; Brunham LR; Costa Pereira A; Jannes CE; Chen M; Chonis J; Wang J; Kim S; Johnston T; Soucek P; Kramarek M; Leigh SE; Carrié A; Sijbrands EJ; Hegele RA; Freiberger T; Knowles JW; Bourbon M;
    Genet Med; 2022 Feb; 24(2):293-306. PubMed ID: 34906454
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
    Horak P; Griffith M; Danos AM; Pitel BA; Madhavan S; Liu X; Chow C; Williams H; Carmody L; Barrow-Laing L; Rieke D; Kreutzfeldt S; Stenzinger A; Tamborero D; Benary M; Rajagopal PS; Ida CM; Lesmana H; Satgunaseelan L; Merker JD; Tolstorukov MY; Campregher PV; Warner JL; Rao S; Natesan M; Shen H; Venstrom J; Roy S; Tao K; Kanagal-Shamanna R; Xu X; Ritter DI; Pagel K; Krysiak K; Dubuc A; Akkari YM; Li XS; Lee J; King I; Raca G; Wagner AH; Li MM; Plon SE; Kulkarni S; Griffith OL; Chakravarty D; Sonkin D
    Genet Med; 2022 May; 24(5):986-998. PubMed ID: 35101336
    [TBL] [Abstract][Full Text] [Related]  

  • 20. vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
    Munté E; Feliubadaló L; Pineda M; Tornero E; Gonzalez M; Moreno-Cabrera JM; Roca C; Bales Rubio J; Arnaldo L; Capellá G; Mosquera JL; Lázaro C
    Bioinformatics; 2023 Mar; 39(3):. PubMed ID: 36916756
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.